Lyndon Gallacher

Flemington Road
Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 33 publications

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.

Journal: American journal of human genetics

Published: November 17, 2025

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.

Journal: Journal of dental research

Published: April 25, 2025

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Journal: HGG advances

Published: February 26, 2025

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Journal: HGG advances

Published: January 29, 2025

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Journal: medRxiv : the preprint server for health sciences

Published: January 07, 2025

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Journal: Genome research

Published: October 07, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Genome Sequencing for Diagnosing Rare Diseases.

Genome Sequencing for Diagnosing Rare Diseases.

Journal: The New England journal of medicine

Published: June 05, 2024

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Journal: medRxiv : the preprint server for health sciences

Published: February 08, 2024

Showing 1-12 of 33

Last Updated: 09/26/2026